24 citations
,
October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
4 citations
,
July 2020 in “Biochemical and Biophysical Research Communications” This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.
15 citations
,
January 1993 in “DNA sequence” This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
114 citations
,
July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
84 citations
,
June 2010 in “The Plant Cell” In this study, disruptions in phospholipase A2 activity in Arabidopsis thaliana significantly impaired the plasma membrane localization of PIN proteins, affecting auxin transport and root development.
75 citations
,
September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
48 citations
,
October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.
42 citations
,
April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
141 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
71 citations
,
August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
2 citations
,
May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
44 citations
,
May 1997 in “Journal of Biological Chemistry” This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
2 citations
,
July 2004 in “Cell Biology International” This study found that urokinase plasminogen activator (uPA) is elevated in hyperproliferative hair follicle keratinocytes in mice, and its inhibition significantly reduces their proliferation.